SMAD9 - dismech genes

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Heritable Pulmonary Arterial Hypertension	causative	mechanism: Impaired BMP/TGF-beta vascular signaling subtype: Rare endothelial-signaling HPAH scoped to subtype: Rare endothelial-signaling HPAH
Pulmonary_hypertension	untyped TGF-beta/BMP axis component implicated in PAH

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
pulmonary arterial hypertension MONDO:0015924	AD	Definitive 2021-05-14	Pulmonary_hypertension untyped

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.